If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.
pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
---|---|---|---|---|---|
5 | 1 | 5 | 0 | 0 | 11 |
Gene and significance breakdown #
Submitter and significance breakdown #
Submitter | pathogenic | likely pathogenic | uncertain significance | total |
---|---|---|---|---|
St. Jude Molecular Pathology, St. Jude Children's Research Hospital | 3 | 1 | 2 | 6 |
Yale Center for Mendelian Genomics, Yale University | 0 | 0 | 2 | 2 |
OMIM | 1 | 0 | 0 | 1 |
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital | 0 | 0 | 1 | 1 |
Columbia University Laboratory of Personalized Genomic Medicine, Columbia University Medical Center | 1 | 0 | 0 | 1 |